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GEN2PHEN Knowledge Centre: an integrated portal for genotype‐to‐phenotype knowledge and data

GEN2PHEN Knowledge Centre: an integrated portal for genotype‐to‐phenotype knowledge and data. GEN2PHEN Knowledge Centre: An integrated portal for genotype‐to‐phenotype knowledge and data. Adam Webb Department of Genetics, University of Leicester, UK. WWW.GEN2PHEN.ORG. Outline.

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GEN2PHEN Knowledge Centre: an integrated portal for genotype‐to‐phenotype knowledge and data

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  1. GEN2PHEN Knowledge Centre:an integrated portal for genotype‐to‐phenotype knowledge and data GEN2PHEN Knowledge Centre: An integrated portal for genotype‐to‐phenotype knowledge and data Adam Webb Department of Genetics, University of Leicester, UK. WWW.GEN2PHEN.ORG

  2. Outline www.gen2phen.org

  3. Integrating G2P data Central database model Central DB Locus-specific database Genome-wide association database www.gen2phen.org

  4. The GEN2PHEN Strategy GEN2PHEN Knowledge Centre A federated network of databases, not a central database €12m EC-funded project Database solutions Locus-specific databases ‘Genomics’ G2P databases Data import systems Data standards Data exchange mechanisms The GEN2PHEN Knowledge Centre will fully leverage this network www.gen2phen.org

  5. AN ONLINE G2P COMMUNITY www.gen2phen.org

  6. Search box Drop-down menus Login / Log out / Register Profile links Bookmarks Latest additions Quick-tabbed sub pages for: New content List of Interest Groups News Event listing Bookmarks www.gen2phen.org

  7. NEWS www.gen2phen.org

  8. Events Calendar Event listing Interactive Map Advertise events www.gen2phen.org

  9. INTEREST GROUPS www.gen2phen.org

  10. Public group Anyone can join & participate Interest Groups Restricted group Moderated or invite only Areas for specialist interest e.g. Web services, Phenotype modelling group Each group can have news, events, blogs, Wikis, etc. Participate via email www.gen2phen.org

  11. PROGRESSING TO AN INTEGRATED COMMUNITYAND DATA PORTAL www.gen2phen.org

  12. Comprehensive listing of LSDBs • Add / update list • Available in alternative formats • XLS • CSV • XML • Resource accessible to 3rd party websites & tools www.gen2phen.org

  13. Café RouGE Integration 3. Variants available at GEN2PHEN Knowledge Centre 1. Variations identified by diagnostic laboratories 2. CentralCaféRouGEconduit ‘advertises’ data availability Submission of mutation data Discovering/accessing mutation data www.gen2phen.org

  14. Search G2P Holistic Search www.gen2phen.org

  15. Resource list Web services Search G2P Web services UMD Web services Café Rouge Comments and annotations Feed of search results etc. www.gen2phen.org

  16. GEN2PHEN Consortium http://www.gen2phen.org/about-gen2phen/partners University of Leicester Anthony Brookes’ Bioinformatics Group Raymond Dalgleish Fundació IMIM AcáciaReiche Leaflets available Contact me: ajw51@le.ac.uk The GEN2PHEN Knowledge Centre has received funding from the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement number 200754 - the GEN2PHEN project. www.gen2phen.org

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